July 31, 2012 # 12:56 pm # PKU Glossary # No Comment
Phenylpyruvic acid, discovered in 1934. by Dr. Ivar Asbjørn Følling, is found in phenylketonuria patients’ urine and is a clear indicator of PKU disorder.
PKU patients lack PAH enzyme and are unable to convert phenylalanine into tyrosine, which enables phenylalanine to acumulate within the body.
July 26, 2012 # 3:11 pm # PKU Glossary # No Comment
Phenylalanine hydroxylase (PAH) enzyme is responsable for converting phenylalanine amino acid into other important compounds in the body. It recieves instructions from the PHE gene, which can also mutate and reduce the Phenylalanine hydroxylase actvity.
July 24, 2012 # 5:20 pm # PKU Glossary # No Comment
Tyrosine is a nonessential amino acid that is used by cells to synthesize proteins and make brain chemicals and thyroid hormones. Phenylketonuria patients lack enzyme that changes phenylalanine (Phe) into tyrosine, which can increase the Phe levels in their blood.
July 22, 2012 # 8:52 pm # PKU Glossary # No Comment
Phenylalanine is an essential amino acid that is needed for normal human growth and development. Lack of enzyme that changes phenylalanine into another amino acid – called tyrosine, another amino acid that is need to make proteins, brain chemicals and thyroid hormones – can increase the levels of phenylalanine in the blood.
March 9, 2011 # 11:35 pm # Everything About PKU Test, PKU Glossary # No Comment
Did you know that all the newborns since 1970s’ have had at least one Phenylketonuria (PKU) test done in their life? And almost none of them knew that they’ve been tested on this disease. Namely, from 1966., most of the countries started to organize neonatal screenings. That means that every child was taken a little bit of blood from the heel after the birth, and then was tested on PKU disease.